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INTERNATIONAL JOURNAL OF PHARMACEUTICAL RESEARCH

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Published by : Advanced Scientific Research
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0975-2366
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IJPR 9[3] July - September 2017 Special Issue

July - September 9[3] 2017

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Genetic Aberrations In Sibling Family Genes And Its Putative Association With Hnscc

Author: SREEKALAPRIYADHARSINI.K , A.S.SMILINEGIRIJA, A.PARAMASIVAM, J.VIJAYASHREE PRIYADHARSINI
Abstract: Head and neck cancer is considered to be the sixth most common type of cancer worldwide. The steep increase in the incidence rate of this cancer type especially in the south Asian countries underscores the need to have better diagnosis and treatment modality. Genetic variations and gross chromosomal abnormalities have been shown to be involved in the process of tumorigenesis. The Small Integrin-Binding LIgand, N-linked Glycoproteins (SIBLING) have been implicated in the process of tumor development and related phenotypes. In line with the above fact, the present study has been designed so as to identify the genetic abnormalities in SIBLING gene family among the HNSCC patients. The study follows an observational study design wherein computational tools are used to identify and assess the consequences of variations in the HNSCC group. Several novel and reported variants were identified in the gene family. Interestingly, the pathogenicity predictions showed that although many substitutions led to decreased stability, several of the variants were found to demonstrate a neutral effect. Gene expression analysis also revealed a significant difference between the normal and increasing grades of tumor with respect to the DMP1 gene, which was shown to exhibit the highest frequency of genetic alteration among the SIBLING family of genes. The survival curve analysis based on DMP1 gene expression also returned significant differences indicating that the differential expression levels might influence the survival probability of HNSC patients. Taken together, the genetic alterations observed in the present dataset throws light on the possible association with HNSCC. Further experimental validations are warranted to derive a conclusive evidence on these associations.
Keyword: head and neck cancer, association,sibling gene expression, genetic alterations.
DOI: https://doi.org/10.31838/ijpr/2020.12.02.310
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